J Med Case Rep. 2025 Sep 2;19(1):437. doi: 10.1186/s13256-025-05425-6.
ABSTRACT
BACKGROUND: Progressive pseudorheumatoid dysplasia is a rare genetic skeletal disease that usually affects children between the ages of 3 and 8 years. The pathological progression of progressive pseudorheumatoid dysplasia involves noninflammatory degeneration of the articular cartilage, resulting in progressive joint stiffness and enlargement. Previously published studies have not considered scoliosis as an early manifestation of progressive pseudorheumatoid dysplasia. However, this paper did, and showed why we should take progressive pseudorheumatoid dysplasia as a differential diagnosis if there is a scoliosis in early years of life.
CASE PRESENTATION: In this paper, we report on an 11-year-old Syrian Arab girl with progressive pseudorheumatoid dysplasia who presented with progressive limitations in passive and active movement of multiple joints. The patient reported experiencing early symptoms, including lumbar scoliosis observed at the age of 7 months. However, at that time, the doctors were unable to make a definitive diagnosis. After years of follow-up with various doctors, the patient sought treatment at the Children’s Hospital in Damascus, where an accurate diagnosis was finally reached. New X-ray images were taken and compared with previous ones, and appropriate laboratory tests were also conducted. Based on all the available information, a diagnosis of progressive pseudorheumatoid dysplasia was made without performing genetic analysis owing to its unavailability in the country.
CONCLUSION: We have written this case report to guide future studies in determining whether there is a possible link between scoliosis in the first years of life and progressive pseudorheumatoid dysplasia. Consequently, is it worth considering progressive pseudorheumatoid dysplasia as a differential diagnosis for scoliosis in the early years?
PMID:40898361 | DOI:10.1186/s13256-025-05425-6
